A 4-week-old girl was brought to the ED while she was actively convulsing. The child was afebrile, but had repeated bouts of emesis. Her parents reported that she had been irritable and that her appetite had been diminished for several days. The baby had been breast-fed exclusively until a week before the ED visit.
Except for the fact that the family lived near an area in which western equine encephalitis was endemic, there was no other pertinent clinical history.
After seizure activity stopped with lorazepam administration, clinical evaluation was initiated. A CBC count and renal panel were ordered, and the child was prepared for a lumbar puncture to rule out encephalitis. Fundoscopy was performed before the lumbar puncture; an adult ophthalmologist confirmed the presence of retinal hemorrhages. Findings similar to those in the Figure were noted. There was no evidence of increased intracranial pressure and CT scans of the head were normal.
Lab tests revealed that the child was acidotic and hypoglycemic. The serum ammonia level was 300 mmol/L.
Do you suspect abuse—or do the physical symptoms suggest an underlying medical disorder?
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